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Cholelithiasis in infants with Down syndrome. Three cases and literature review
D J Aughton1, P Gibson, A Cacciarelli
1Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan 48073.
Insights
Cholelithiasis (gallstones) may be more common in infants with Down syndrome than previously thought. This study reports three cases, with no immediate need for intervention, suggesting further research is warranted.
Area of Science:
- Pediatrics
- Medical Genetics
- Gastroenterology
Background:
- Down syndrome is a genetic disorder associated with various health complications.
- Cholelithiasis, or gallstones, is rarely reported in individuals with Down syndrome, particularly infants.
Observation:
- This report details three male infants diagnosed with Down syndrome at birth who presented with cholelithiasis.
- Gallstones were congenital in one infant, detected on day one of life.
- In another infant, cholelithiasis was an incidental finding during renal ultrasonography for a urinary tract infection at 12 weeks old.
- The third infant was diagnosed with gallstones via sonography at four months of age.
Findings:
- All three infants with Down syndrome and cholelithiasis remain asymptomatic, with no current indication for medical intervention.
- The presence of gallstones in these infants suggests cholelithiasis might be underdiagnosed in this population.
Implications:
- Cholelithiasis may occur more frequently in infants with Down syndrome than previously documented.
- Further investigation is needed to determine if Down syndrome infants with gastrointestinal malformations have a higher incidence of gallstones compared to infants without Down syndrome.
- These findings highlight the importance of considering cholelithiasis in the diagnostic workup of infants with Down syndrome, even in the absence of symptoms.
Abstract:
Only four cases of cholelithiasis have been reported in patients with Down syndrome and none in Down syndrome infants. The cases of three Down syndrome infants (all males) with cholelithiasis are reported. Each exhibited different fetal complications, and in each, Down syndrome was diagnosed at birth. Gallstones apparently were congenital (a rarity) in one infant, since they were detected on the first day of life. Cholelithiasis was an incidental finding in another of the infants when, at 12 weeks old, he had renal ultrasonography because of a urinary tract infection. The third infant was 4 months old when sonographic studies revealed a gallstone. Despite the confirmation of cholelithiasis in all three infants, none has since had any signs or symptoms that suggest the need for intervention. Cholelithiasis is probably more common in Down syndrome infants than has been supposed, but whether Down syndrome infants with gastrointestinal (GI) malformations are more likely to have gallstones than are children with similar GI malformations but with normal karyotypes is unknown.